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KIAA0408 Gene

protein-coding   GIFtS: 38
GCID: GC06M127761

KIAA0408

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
KIAA04081 2
Uncharacterized Protein KIAA04082

External Ids:    HGNC: 216361   Entrez Gene: 97292   Ensembl: ENSG000001893677   UniProtKB: Q6ZU523   

Export aliases for KIAA0408 gene to outside databases

Previous GC identifers: GC06M127421 GC06M127608 GC06M127742 GC06M127745 GC06M127803


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for KIAA0408 Gene:
KIAA0408 (KIAA0408) is a protein-coding gene. Diseases associated with KIAA0408 include schizophrenia, and cerebritis.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the KIAA0408 gene promoter:
         Oct-B1   TBP   STAT5B   MEF-2   Pax-2   Pax-2a   POU2F2C   MEF-2A   TFIID   aMEF-2   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KIAA0408

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KIAA0408


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q22.33   Ensembl cytogenetic band:  6q22.33   HGNC cytogenetic band: 6q22.33

KIAA0408 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA0408 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06M127761:  view genomic region     (about GC identifiers)

Start:
127,759,551 bp from pter      End:
127,780,536 bp from pter
Size:
20,986 bases      Orientation:
minus strand

1 alternative location:
Chr6- 127,759,551-127,840,146     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: K0408_HUMAN, Q6ZU52 (See protein sequence)
Recommended Name: Uncharacterized protein KIAA0408  
Size: 694 amino acids; 79163 Da
Sequence caution: Sequence=BAA23704.2; Type=Erroneous initiation;
Secondary accessions: B3KRE5 E1P573 O43158 Q5TF20 Q7L2M2
Alternative splicing: 2 isoforms:  Q6ZU52-1   Q6ZU52-2   

Explore the universe of human proteins at neXtProt for KIAA0408: NX_Q6ZU52

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • REFSEQ proteins: NP_055517.3  
    ENSEMBL proteins: 
     ENSP00000436178   ENSP00000435150   ENSP00000434384  

    KIAA0408 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for KIAA0408
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    Novus Biologicals KIAA0408 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    KIAA0408 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals KIAA0408 Antibody
    Search for Antibodies for KIAA0408 at Abcam
    Browse Antibodies at Cloud-Clone Corp.
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    Search LSBio for Antibodies for KIAA0408

    KIAA0408 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for KIAA0408
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR027882 DUF4482

    Graphical View of Domain Structure for InterPro Entry Q6ZU52

    ProtoNet protein and cluster: Q6ZU52


    KIAA0408 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    KIAA0408 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for KIAA0408:
     Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KIAA0408
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KIAA0408
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KIAA0408

    miRNA
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    Block miRNA regulation of human, mouse, rat KIAA0408 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIAA0408 (see all 68):
    hsa-miR-607 hsa-miR-300 hsa-miR-200a hsa-miR-3653 hsa-miR-374a hsa-miR-30d hsa-miR-502-3p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidKIAA0408 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for KIAA0408
    Predesigned siRNA for gene silencing in human, mouse, rat KIAA0408

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for KIAA0408

    Clone
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    OriGene clones in human, mouse for KIAA0408 (see all 7)
    OriGene ORF clones in mouse, rat for KIAA0408
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KIAA0408 (NM_014702)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA0408
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0408

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for KIAA0408
    Browse ESI BIO Cell Lines and PureStem Progenitors for KIAA0408 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0408


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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      --

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KIAA0408
    Interactions:

        Search GeneGlobe Interaction Network for KIAA0408

    Selected Interacting proteins for KIAA0408 (Q6ZU521, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABI3Q9P2A42, 3MINT-66748 I2D: score=5 
    AP2B1P630102, 3MINT-66266 I2D: score=5 
    BEGAINQ9BUH82, 3MINT-66776 I2D: score=5 
    CCDC85BQ158342, 3MINT-67342 I2D: score=5 
    CEP72Q9P2092, 3MINT-66023 I2D: score=5 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for KIAA0408 (K0408)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for KIAA0408 gene: 
    NM_014702.4  

    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368281 ENST00000465254 ENST00000483725 ENST00000487331 ENST00000472335

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat KIAA0408 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate KIAA0408 (see all 68):
    hsa-miR-607 hsa-miR-300 hsa-miR-200a hsa-miR-3653 hsa-miR-374a hsa-miR-30d hsa-miR-502-3p hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidKIAA0408 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for KIAA0408
    Predesigned siRNA for gene silencing in human, mouse, rat KIAA0408
    Clone
    Products:
         
    OriGene clones in human, mouse for KIAA0408 (see all 7)
    OriGene ORF clones in mouse, rat for KIAA0408
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: KIAA0408 (NM_014702)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KIAA0408
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIAA0408
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for KIAA0408
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat KIAA0408
      QuantiTect SYBR Green Assays in human, mouse, rat KIAA0408
      QuantiFast Probe-based Assays in human, mouse, rat KIAA0408

    Selected AceView cDNA sequences (see all 78):

    BI517371 BC018396 AI249493 AI674081 AK091424 CR591062 AL712906 BE796893 
    AL118748 AI694978 AI018230 AI911498 BE552225 AK125983 AK096490 AX746974 
    BM671495 BX479180 D61673 CA445883 AL539509 AK091416 BC020441 BG704462 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for KIAA0408 (see all 11)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d · 7e ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c · 11d ^ 12 ^ 13a · 13b · 13c · 13d ^
    SP1:                                                                                            -     -     -                       -                           
    SP2:                                                                                            -     -     -                       -                           
    SP3:              -                                                                                                                                             
    SP4:                                                                                            -     -     -     -                                             
    SP5:                                                                                                        -                       -                           

    ExUns: 14 ^ 15 ^ 16 ^ 17 ^ 18a · 18b
    SP1:                                    
    SP2:                                    
    SP3:                                    
    SP4:                                    
    SP5:                                    


    ECgene alternative splicing isoforms for KIAA0408

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    KIAA0408 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    KIAA0408 Expression
    About this image


    KIAA0408 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Endothelial Cells Blood Brain Barrier
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Liver (Hepatobiliary System)
             Mesothelial Cells Hepatic Mesenchyme
     
     Endothelium (Cardiovascular System)
             Endothelial Cells Blood Brain Barrier
    KIAA0408 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
        Custom PCR Arrays for KIAA0408
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    QuantiFast Probe-based Assays in human, mouse, rat KIAA0408
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIAA0408

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for KIAA0408 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Soga35
    9330159F19Rik1
    RIKEN cDNA 6330407J23 gene5
    RIKEN cDNA 9330159F19 gene1
    76.46(n)1
    60.51(a)1
      10 (16.52 cM)5
    2124481  NM_001162537.21  NP_001156009.11 
     291439965 
    chicken
    (Gallus gallus)
    Aves KIAA04081 KIAA0408 ortholog 59.97(n)
    45.41(a)
      101750381  XM_004940241.1  XP_004940298.1 
    lizard
    (Anolis carolinensis)
    Reptilia KIAA04086
    KIAA0408
    38(a)
    1 ↔ 1
    GL343358.1(62644-80535)
    zebrafish
    (Danio rerio)
    Actinopterygii soga3a1 SOGA family member 3a 45.05(n)
    33.99(a)
      558933  XM_002664781.2  XP_002664827.1 


    ENSEMBL Gene Tree for KIAA0408 (if available)
    TreeFam Gene Tree for KIAA0408 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for KIAA0408 gene
    3 SIMAP similar genes for KIAA0408 using alignment to 5 protein entries:     K0408_HUMAN (see all proteins):
    SOGA3    C6orf174    SOGA2

    KIAA0408 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    2 SNPs for KIAA0408    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs22360261,2,4
    ----see VAR_0495102 mis40--------
    rs37344471,2,4
    ----see VAR_0270822 mis40--------

    HapMap Linkage Disequilibrium report for KIAA0408 (127759551 - 127780536 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KIAA0408: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing KIAA0408
    DNA2.0 Custom Variant and Variant Library Synthesis for KIAA0408

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    4 diseases for KIAA0408:    
    About MalaCards
    schizophrenia    cerebritis    hepatitis    endotheliitis


    KIAA0408 for disorders           About GeneDecksing


    Export disorders for KIAA0408 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for KIAA0408 gene, integrated from 10 sources (see all 11):
    (articles sorted by number of sources associating them with KIAA0408)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)
    4. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2 Ishikawa K.... Ohara O. (DNA Res. 1997)
    5. A Y2H-seq approach defines the human protein methyltransferase interactome. (PubMed id 23455924)1 Weimann M.... Stelzl U. (Nat. Methods 2013)
    6. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)
    7. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    8. A genome-wide short hairpin RNA screening of jurkat T-cells for human proteins contributing to productive HIV-1 replication. (PubMed id 19460752)1 Yeung M.L....Jeang K.T. (J. Biol. Chem. 2009)
    9. Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. (PubMed id 17043677)1 Camargo L.M....Brandon N.J. (Mol. Psychiatry 2007)
    10. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9729 HGNC: 21636 AceView: KIAA0408 Ensembl:ENSG00000189367 euGenes: HUgn9729
    ECgene: KIAA0408 H-InvDB: KIAA0408

    (According to HUGE)
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    HUGE: KIAA0408

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for KIAA0408 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for KIAA0408 gene:
    Search GeneIP for patents involving KIAA0408

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    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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